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Journal Abstract Search

278 related items for PubMed ID: 11179007

  • 1. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
    Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Söderhäll C, Samuelsson A, Janka G, Schneider M, Gürgey A, Yalman N, Révész T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjöld M, Henter J.
    Am J Hum Genet; 2001 Mar; 68(3):590-7. PubMed ID: 11179007
    [Abstract] [Full Text] [Related]

  • 2. Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
    Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V.
    Science; 1999 Dec 03; 286(5446):1957-9. PubMed ID: 10583959
    [Abstract] [Full Text] [Related]

  • 3. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.
    Ishii E, Ueda I, Shirakawa R, Yamamoto K, Horiuchi H, Ohga S, Furuno K, Morimoto A, Imayoshi M, Ogata Y, Zaitsu M, Sako M, Koike K, Sakata A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M.
    Blood; 2005 May 01; 105(9):3442-8. PubMed ID: 15632205
    [Abstract] [Full Text] [Related]

  • 4. Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
    Ericson KG, Fadeel B, Andersson M, Gudmundsson GH, Gürgey A, Yalman N, Janka G, Nordenskjöld M, Henter JI.
    Hum Genet; 2003 Jan 01; 112(1):98-9. PubMed ID: 12483306
    [Abstract] [Full Text] [Related]

  • 5. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
    Feldmann J, Le Deist F, Ouachée-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, Fischer A, de Saint Basile G.
    Br J Haematol; 2002 Jun 01; 117(4):965-72. PubMed ID: 12060139
    [Abstract] [Full Text] [Related]

  • 6. Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.
    Feldmann J, Ménasché G, Callebaut I, Minard-Colin V, Bader-Meunier B, Le Clainche L, Fischer A, Le Deist F, Tardieu M, de Saint Basile G.
    Blood; 2005 Apr 01; 105(7):2658-63. PubMed ID: 15598808
    [Abstract] [Full Text] [Related]

  • 7. Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.
    Ishii E, Ohga S, Imashuku S, Kimura N, Ueda I, Morimoto A, Yamamoto K, Yasukawa M.
    Crit Rev Oncol Hematol; 2005 Mar 01; 53(3):209-23. PubMed ID: 15718147
    [Abstract] [Full Text] [Related]

  • 8. Familial hemophagocytic lymphohistiocytosis: too little cell death can seriously damage your health.
    Fadeel B, Orrenius S, Henter JI.
    Leuk Lymphoma; 2001 Jun 01; 42(1-2):13-20. PubMed ID: 11699200
    [Abstract] [Full Text] [Related]

  • 9. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
    zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC.
    Hum Mol Genet; 2005 Mar 15; 14(6):827-34. PubMed ID: 15703195
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  • 12. [Familial hemophagocytic lymphohistiocytosis(FHL)].
    Kawa K.
    Ryoikibetsu Shokogun Shirizu; 2000 Mar 15; (32):553-6. PubMed ID: 11212803
    [No Abstract] [Full Text] [Related]

  • 13. The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene.
    Voskoboinik I, Thia MC, De Bono A, Browne K, Cretney E, Jackson JT, Darcy PK, Jane SM, Smyth MJ, Trapani JA.
    J Exp Med; 2004 Sep 20; 200(6):811-6. PubMed ID: 15365097
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  • 15. Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.
    Suga N, Takada H, Nomura A, Ohga S, Ishii E, Ihara K, Ohshima K, Hara T.
    Br J Haematol; 2002 Feb 20; 116(2):346-9. PubMed ID: 11841437
    [Abstract] [Full Text] [Related]

  • 16. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
    Rudd E, Bryceson YT, Zheng C, Edner J, Wood SM, Ramme K, Gavhed S, Gürgey A, Hellebostad M, Bechensteen AG, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI.
    J Med Genet; 2008 Mar 20; 45(3):134-41. PubMed ID: 17993578
    [Abstract] [Full Text] [Related]

  • 17. Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH).
    zur Stadt U, Kabisch H, Janka G, Schneider EM.
    Med Pediatr Oncol; 2003 Jul 20; 41(1):26-9. PubMed ID: 12764739
    [Abstract] [Full Text] [Related]

  • 18. Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).
    Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S.
    Pediatr Blood Cancer; 2006 Apr 20; 46(4):482-8. PubMed ID: 16365863
    [Abstract] [Full Text] [Related]

  • 19. Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.
    Muralitharan S, Wali YA, Dennison D, Lamki ZA, Zachariah M, Nagwa el B, Pathare A, Krishnamoorthy R.
    Am J Hematol; 2007 Dec 20; 82(12):1099-102. PubMed ID: 17674359
    [Abstract] [Full Text] [Related]

  • 20. Perforin and lymphohistiocytic proliferative disorders.
    Katano H, Cohen JI.
    Br J Haematol; 2005 Mar 20; 128(6):739-50. PubMed ID: 15755277
    [Abstract] [Full Text] [Related]

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